Results 41 to 50 of about 4,634 (224)

Dysferlin mutations and mitochondrial dysfunction [PDF]

Neuromuscular Disorders, 2016
Dysferlinopathies are caused by mutations in the DYSF gene and patients may present with proximal or distal myopathy. Dysferlin is responsible for membrane resealing, and mutations may result in a defect in membrane repair following mechanical or chemical stress, causing an influx of Ca2+.
Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM   +8 more
openaire   +3 more sources

Dysferlin C2-FerA analysis. [PDF]

, 2022
A. C2-FerA domain schematic showings the secondary structure connectivity and the large insertion of the β4–5 FerA subdomain. B. SDS-PAGE showing the purified dysferlin C2-FerA domain versus molecular weight size markers. C.
Jon J. McCord (11977550), Matthew J. Dominguez (13171020), R. Bryan Sutton (69050)   +2 more
core   +1 more source

Loss of dysferlin or myoferlin results in differential defects in excitation–contraction coupling in mouse skeletal muscle

Scientific Reports, 2021
Muscular dystrophies are disorders characterized by progressive muscle loss and weakness that are both genotypically and phenotypically heterogenous. Progression of muscle disease arises from impaired regeneration, plasma membrane instability, defective ...
David Y. Barefield, Jordan J. Sell, Ibrahim Tahtah, Samuel D. Kearns, Elizabeth M. McNally, Alexis R. Demonbreun   +5 more
doaj   +1 more source

Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family

Frontiers in Genetics, 2021
BackgroundNeuromuscular disorders (NMD), many of which are hereditary, affect muscular function. Due to advances in high-throughput sequencing technologies, the diagnosis of hereditary NMDs has dramatically improved in recent years.Methods and ResultsIn ...
Feng Zhu, Feng Zhu, Fengxiao Zhang, Fengxiao Zhang, Lizhi Hu, Lizhi Hu, Haowen Liu, Yahua Li   +7 more
doaj   +1 more source

Analysis of Dysferlin Direct Interactions with Putative Repair Proteins Links Apoptotic Signaling to Ca2+ Elevation via PDCD6 and FKBP8

International Journal of Molecular Sciences, 2023
Quantitative surface plasmon resonance (SPR) was utilized to determine binding strength and calcium dependence of direct interactions between dysferlin and proteins likely to mediate skeletal muscle repair, interrupted in limb girdle muscular dystrophy ...
D. Drescher, M. Drescher, Dakshnamurthy Selvakumar, N. Annam   +3 more
semanticscholar   +1 more source

The dysferlin C2A domain binds PI(4,5)P2 and penetrates membranes

Journal of Molecular Biology, 2023
Dysferlin is a large membrane protein found most prominently in striated muscle. Loss of dysferlin activity is associated with reduced exocytosis, abnormal intracellular Ca2+ and the muscle diseases limb-girdle muscular dystrophy and Miyoshi myopathy ...
Ethiene Kwok, S. Otto, Patrisha Khuu, Andrew P. Carpenter, Sara J. Codding, P. Reardon, Juan M Vanegas, T. Kumar, Chapman J. Kuykendall, R. Mehl, J. Baio, Colin P. Johnson   +11 more
semanticscholar   +1 more source

Crystal structures of the human Dysferlin inner DysF domain [PDF]

, 2014
Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R., Nicholas H Keep, Keep, Nicholas H., Altin Sula, Sula, Altin, Orengo, C., Ambrose R Cole, Corin Yeats, Yeats, C., Christine Orengo   +9 more
core   +1 more source

Trophoblast cell fusion and differentiation are mediated by both the protein kinase C and a pathways. [PDF]

PLoS ONE, 2013
The syncytiotrophoblast of the human placenta is an epithelial barrier that interacts with maternal blood and is a key for the transfer of nutrients and other solutes to the developing fetus.
Waka Omata, William E Ackerman, Dale D Vandre, John M Robinson   +3 more
doaj   +1 more source

Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]

, 2008
Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Geddes, Stella M., Keep, Nicholas H., Bashir, R., Driscoll, P.C., Patel, P., Harris, R., Bushby, K., Watson, J.D., Strehle, E.M.   +8 more
core   +1 more source

Dysferlin in Membrane Trafficking and Patch Repair [PDF]

Traffic, 2007
The muscular dystrophies are a heterogeneous group of inherited disorders, defined by progressive muscle weakness and atrophy. Following the discovery of dystrophin, remarkable progress has been made in defining the molecular properties of proteins involved in the various dystrophies.
Louise, Glover, Robert H, Brown
openaire   +2 more sources